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Neurohypophyseal diabetes insipidus

MedGen UID:
574999
Concept ID:
C0342394
Disease or Syndrome
Synonyms: Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; DIABETES INSIPIDUS, PRIMARY CENTRAL; Hereditary central diabetes insipidus; Pituitary diabetes insipidus
SNOMED CT: Familial central diabetes insipidus (237696003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Gene (location): AVP (20p13)
 
Monarch Initiative: MONDO:0007450
OMIM®: 125700
Orphanet: ORPHA30925

Definition

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood (summary by Wahlstrom et al., 2004). [from OMIM]

Clinical features

From HPO
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Wide nose
MedGen UID:
140869
Concept ID:
C0426421
Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Central diabetes insipidus
MedGen UID:
146919
Concept ID:
C0687720
Disease or Syndrome
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with neurohypophyseal diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected people need to urinate frequently, which can disrupt daily activities and sleep.\n\nPeople with neurohypophyseal diabetes insipidus can quickly become dehydrated if they do not drink enough water. Dehydration can lead to constipation and dry skin. If the disorder is not treated, more serious complications of dehydration can occur. These include confusion, low blood pressure, seizures, and coma.\n\nNeurohypophyseal diabetes insipidus can be either acquired or familial. The acquired form is brought on by injuries, tumors, and other factors, and can occur at any time during life. The familial form is caused by genetic mutations; its signs and symptoms usually become apparent in childhood and worsen over time.\n\nNeurohypophyseal diabetes insipidus should not be confused with diabetes mellitus, which is much more common. Diabetes mellitus is characterized by high blood sugar (glucose) levels resulting from a shortage of the hormone insulin or an insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and diabetes mellitus have some features in common, they are separate disorders with different causes.
Decreased circulating osteocalcin level
MedGen UID:
1625214
Concept ID:
C4531125
Finding
A reduced level of osteocalcin in the blood.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Hrčková G, Jankó V, Kytnarová J, Čižmárová M, Tesařová M, Košťálová Ľ, Virgová D, Dallos T, Hána V, Lebl J, Zeman J, Kovács L
Eur J Pediatr 2016 Sep;175(9):1199-1207. Epub 2016 Aug 18 doi: 10.1007/s00431-016-2759-x. PMID: 27539621
Oiso Y, Robertson GL, Nørgaard JP, Juul KV
J Clin Endocrinol Metab 2013 Oct;98(10):3958-67. Epub 2013 Jul 24 doi: 10.1210/jc.2013-2326. PMID: 23884783
Wales JK
Lancet 1975 Nov 15;2(7942):948-51. doi: 10.1016/s0140-6736(75)90361-x. PMID: 53432

Curated

UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

Recent clinical studies

Etiology

García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group, Castaño L
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa069. PMID: 32052034
Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472
Birk J, Friberg MA, Prescianotto-Baschong C, Spiess M, Rutishauser J
J Cell Sci 2009 Nov 1;122(Pt 21):3994-4002. Epub 2009 Oct 13 doi: 10.1242/jcs.051136. PMID: 19825939
Ozata M, Tayfun C, Kurtaran K, Yetkin I, Beyhan Z, Corakci A, Cağlayan S, Alemdaroglu A, Gündogan MA
Eur Radiol 1997;7(7):1098-102. doi: 10.1007/s003300050261. PMID: 9265683

Diagnosis

Spiess M, Beuret N, Rutishauser J
Best Pract Res Clin Endocrinol Metab 2020 Sep;34(5):101432. Epub 2020 Jun 19 doi: 10.1016/j.beem.2020.101432. PMID: 32712149
Schernthaner-Reiter MH, Stratakis CA, Luger A
Endocrinol Metab Clin North Am 2017 Jun;46(2):305-334. Epub 2017 Feb 28 doi: 10.1016/j.ecl.2017.01.002. PMID: 28476225
Bichet DG
Ann Endocrinol (Paris) 2012 Apr;73(2):117-27. Epub 2012 Apr 19 doi: 10.1016/j.ando.2012.03.030. PMID: 22520736
Christensen JH, Rittig S
Semin Nephrol 2006 May;26(3):209-23. doi: 10.1016/j.semnephrol.2006.03.003. PMID: 16713494
Robertson GL
Endocrinol Metab Clin North Am 1995 Sep;24(3):549-72. PMID: 8575409

Therapy

Oiso Y, Robertson GL, Nørgaard JP, Juul KV
J Clin Endocrinol Metab 2013 Oct;98(10):3958-67. Epub 2013 Jul 24 doi: 10.1210/jc.2013-2326. PMID: 23884783
Babey M, Kopp P, Robertson GL
Nat Rev Endocrinol 2011 Jul 5;7(12):701-14. doi: 10.1038/nrendo.2011.100. PMID: 21727914
de Fost M, van Trotsenburg AS, van Santen HM, Endert E, van den Elzen C, Kamsteeg EJ, Swaab DF, Fliers E
Eur J Endocrinol 2011 Jul;165(1):161-5. Epub 2011 Apr 15 doi: 10.1530/EJE-11-0048. PMID: 21498630
Meinders AE, van Leeuwen AM, Borst JG, Cejka V
Clin Sci Mol Med 1975 Oct;49(4):283-90. doi: 10.1042/cs0490283. PMID: 1192687
Wales JK
Lancet 1975 Nov 15;2(7942):948-51. doi: 10.1016/s0140-6736(75)90361-x. PMID: 53432

Prognosis

Marzocchi C, Cantara S, Sagnella A, Castagna MG, Capezzone M
Endocrine 2021 Oct;74(1):188-192. Epub 2021 Jul 28 doi: 10.1007/s12020-021-02830-x. PMID: 34319541Free PMC Article
Feldkamp LLI, Kaminsky E, Kienitz T, Quinkler M
Horm Metab Res 2020 Nov;52(11):796-802. Epub 2020 Jul 6 doi: 10.1055/a-1175-1307. PMID: 32629514
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group, Castaño L
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa069. PMID: 32052034
Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Ilhan M, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E
J Endocrinol Invest 2016 Mar;39(3):285-90. Epub 2015 Jul 25 doi: 10.1007/s40618-015-0357-9. PMID: 26208472

Clinical prediction guides

Alvelos MI, Francisco Â, Gomes L, Paiva I, Melo M, Marques P, Gama-de-Sousa S, Carreiro S, Quintela T, Gonçalves I, Lemos MC
Pituitary 2021 Jun;24(3):400-411. Epub 2021 Jan 12 doi: 10.1007/s11102-020-01119-y. PMID: 33433888
García-Castaño A, Madariaga L, Pérez de Nanclares G, Vela A, Rica I, Gaztambide S, Martínez R, Martinez de LaPiscina I, Urrutia I, Aguayo A, Velasco O; Familial neurohypophyseal diabetes insipidus Spanish working group, Castaño L
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgaa069. PMID: 32052034
Rutishauser J, Beuret N, Prescianotto-Baschong C, Spiess M
Exp Suppl 2019;111:299-315. doi: 10.1007/978-3-030-25905-1_14. PMID: 31588537
Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, Cappa M, Casale M, Cavarzere P, Cipriani S, Corbetta S, Gaudino R, Iughetti L, Martini L, Napoli F, Peri A, Salerno MC, Salerno R, Passeri E, Maghnie M, Perrotta S, Di Iorgi N
Eur J Endocrinol 2019 Sep;181(3):233-244. doi: 10.1530/EJE-19-0299. PMID: 31238300
Robertson GL
Endocrinol Metab Clin North Am 1995 Sep;24(3):549-72. PMID: 8575409

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2019
      UK NICE Guideline NG19, Diabetic foot problems: prevention and management, 2019

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